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STOX1

OverviewProducts

Function

Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity).

Isoform A

Involved in cell cycle regulation by binding to the CCNB1 promoter, up-regulating its expression and promoting mitotic entry (PubMed:22253775). Induces phosphorylation of MAPT/tau (PubMed:22995177).

Involvement in disease

Pre-eclampsia/eclampsia 4

PEE4

A hypertensive disorder of pregnancy characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. It impacts 2 individuals, the mother and her child, both of whom can be severely affected. Preeclampsia is one of the causes of maternal mortality and morbidity worldwide.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue specificity

Expressed in placenta, including the invasive extravillus trophoblast cells.

Cellular localization

  • Isoform A
  • Cytoplasm
  • Nucleus
  • Cytoplasm
  • Cytoskeleton
  • Microtubule organizing center
  • Centrosome
  • In epithelial cells, diffusely expressed in the cytoplasm, particularly in peri-membrane cortical regions (By similarity). Concentrated at centrosomes during metaphase (PubMed:22253775).
  • Isoform B
  • Nucleus
  • Isoform C
  • Nucleus
  • Nucleolus

Alternative names

  • Storkhead-box protein 1
  • Winged-helix domain-containing protein
  • STOX1
  • C10orf24

Database links

Target type

Proteins

Molecular weight

110962Da